Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease

被引：27

作者：

Guillet, Virginie ^{[1
,3
]}

Gueguen, Naig ^{[1
,2
]}

Verny, Christophe ^{[1
,3
,4
]}

Ferre, Marc ^{[1
,2
,3
]}

Homedan, Chadi ^{[2
]}

Loiseau, Dominique ^{[1
,3
]}

Procaccio, Vincent ^{[2
,3
,5
]}

Amati-Bonneau, Patrizia ^{[1
,2
]}

Bonneau, Dominique ^{[1
,2
,3
]}

Reynier, Pascal ^{[1
,2
,3
]}

Chevrollier, Arnaud ^{[1
,2
]}

机构：

[1] INSERM, U694, F-49000 Angers, France

[2] CHU Angers, Dept Biochim & Genet, F-49000 Angers, France

[3] Univ Angers, Fac Med, F-49000 Angers, France

[4] CHU Angers, Dept Neurol, F-49000 Angers, France

[5] CNRS, INSERM, UMR6214, U771, F-49000 Angers, France

来源：

NEUROGENETICS | 2010年 / 11卷 / 01期

关键词：

Charcot-Marie-Tooth; CMT2A; MFN2; Mitochondria; Adenine nucleotide translocase; FUSION; MUTATIONS; CELLS; MFN2; MITOFUSIN-1; EXPRESSION; DEPENDENCE; NEUROPATHY; DYNAMICS; PROTEIN;

D O I：

10.1007/s10048-009-0207-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patients' fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with the disease. The mitochondrial uncoupling was associated with a higher respiratory rate, essentially involving complex II proteins. Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges.

引用

页码：127 / 133

页数：7

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